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American Journal of Medical Genetics|December 14, 1999
Blaschkolinear malformation syndrome in complex trisomy-7 mosaicismE Magenis, M J Webb, B Spears, et al.
European Journal of Pediatrics|July 1, 1981
Niemann-Pick disease type C. Pathological, histochemical, ultrastructural and biochemical studiesE F Gilbert, J Callahan, C Viseskul, et al.
American Journal of Medical Genetics|May 1, 1988
Simpson-Golabi-Behmel syndrome: follow-up of the Michigan familyJ M Opitz, J Herrmann, E F Gilbert, et al.
Pediatrics|August 1, 1989
Selected midline defect associations: a population studyM J Khoury, J F Cordero, J Mulinare, et al.
American Journal of Medical Genetics|December 18, 1996
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?G Corsello, A Albanese, M Piccione, et al.
Zeitschrift Fur Kinderheilkunde|July 1, 1975
Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inheritedG Neuhäuser, E G Kaveggia, T D France, et al.
American Journal of Medical Genetics|May 1, 1988
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndromeG Neri, R Marini, M Cappa, et al.
American Journal of Medical Genetics|May 3, 1996
Bilateral radial deficiency with lower limb involvementS Spranger, M Weber, J Tröger, et al.
American Journal of Medical Genetics|March 1, 1988
Facial midline defect in the fetal alcohol syndrome: embryogenetic considerations in two clinical casesG Neri, V Sammito, C Romano, et al.
American Journal of Medical Genetics|August 3, 2001
Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18G Chamyan, D Debich-Spicer, J M Opitz, et al.
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